Canonical Allele Identifier: CA275810
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204170
dbSNP Id: rs180177298
COSMIC: COSM720887

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878021G>T , CM000664.2:g.240878021G>T GRCh38
NC_000002.11:g.241817438G>T , CM000664.1:g.241817438G>T GRCh37
NC_000002.10:g.241466111G>T NCBI36
NG_008005.1:g.14277G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.943-1G>T MANE Select ENSP00000302620.3:n.943-1G>T
ENST00000307503.3:c.943-1G>T ENSP00000302620.3:n.943-1G>T
ENST00000470255.1:n.721-1G>T
NM_000030.2:c.943-1G>T NP_000021.1:n.943-1G>T
NM_000030.3:c.943-1G>T MANE Select NP_000021.1:n.943-1G>T